Living with Marshall-Smith syndrome
A genetic condition with early bone maturation, slow weight gain, distinct facial features, and intellectual disability.
Understanding Marshall-Smith syndrome
Other signs can include eye differences, breathing problems, nervous system issues, heart defects, extra body hair, and flat feet. It starts in newborns and infants. Most people are the first in their family with it, due to a new (de novo) gene change.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bones that look older than the person's age
- Poor weight gain (failure to thrive)
- Intellectual disability
- Prominent forehead and bulging eyes
- Loose joints and scoliosis
- Fractures more easily and low bone density
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in NFIX are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Marshall-Smith Syndrome Organization of the USA
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the NFIX gene cause this condition. Most people have a new (de novo) change not inherited from a parent. It follows an autosomal dominant pattern.
Also known as: accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome; accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome; mrshss
Patient organizations
- Marshall-Smith Syndrome Organization of the USAMarshall-Smith syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Marshall-Smith syndrome.
Explore research for Marshall-Smith syndrome
Explore actively recruiting Marshall-Smith syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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